ReNU Syndrome United
@renusyndrome.bsky.social
The patient advocacy organization working to build community, raise awareness, and advance research for ReNU syndrome.
De novo and inherited dominant variants in RNU4-2 and RNU6 paralogs cause retinitis pigmentosa. While these variants aren't associated with #ReNUsyndrome, it further expands our knowledge of snRNAs. Thanks for your work on this,
@mquinodoz.bsky.social, @carlorivolta.bsky.social, et al.
@mquinodoz.bsky.social, @carlorivolta.bsky.social, et al.
🧬 Major breakthrough: IOB researchers identify new genetic cause of inherited blindness in overlooked RNA genes. The discovery solves decades-old diagnostic mystery and opens new pathways for many patients worldwide.
➡️ www.nature.com/articles/s41...
#AcademicBlueSky #Genetics #VisionResearch #IRDs
➡️ www.nature.com/articles/s41...
#AcademicBlueSky #Genetics #VisionResearch #IRDs
January 9, 2026 at 8:43 PM
De novo and inherited dominant variants in RNU4-2 and RNU6 paralogs cause retinitis pigmentosa. While these variants aren't associated with #ReNUsyndrome, it further expands our knowledge of snRNAs. Thanks for your work on this,
@mquinodoz.bsky.social, @carlorivolta.bsky.social, et al.
@mquinodoz.bsky.social, @carlorivolta.bsky.social, et al.
📣 Research collaboration alert! Salve Therapeutics has identified peptides that increase AAV binding affinity to neuronal receptors and is seeking a wet lab collaborator for in vitro binding studies. Contact Stefan Lukianov for more info.
www.salvetherapeutics.com/about-us
#ReNUsyndrome
#ReNUhope
www.salvetherapeutics.com/about-us
#ReNUsyndrome
#ReNUhope
January 8, 2026 at 5:19 AM
📣 Research collaboration alert! Salve Therapeutics has identified peptides that increase AAV binding affinity to neuronal receptors and is seeking a wet lab collaborator for in vitro binding studies. Contact Stefan Lukianov for more info.
www.salvetherapeutics.com/about-us
#ReNUsyndrome
#ReNUhope
www.salvetherapeutics.com/about-us
#ReNUsyndrome
#ReNUhope
📣 New article alert! First study to recommend systematically checking ReNU4-2 gene in pregnancies with unexplained brain anomalies. pubmed.ncbi.nlm.nih.gov/41449851/ 🧬 🤰
#ReNUsyndrome
#ReNUhope
#ReNUsyndrome
#ReNUhope
Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies - PubMed
Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in…
pubmed.ncbi.nlm.nih.gov
January 8, 2026 at 4:19 AM
📣 New article alert! First study to recommend systematically checking ReNU4-2 gene in pregnancies with unexplained brain anomalies. pubmed.ncbi.nlm.nih.gov/41449851/ 🧬 🤰
#ReNUsyndrome
#ReNUhope
#ReNUsyndrome
#ReNUhope
CONGRATULATIONS @nickywhiffin.bsky.social from @ox.ac.uk for being named in @thetimes.com for the momentous ReNU syndrome discovery and also to Yuyang Chen and all other incredible researchers involved!! 🎉👏🏻🧬
www.thetimes.com/article/sund...
#ReNUsyndrome
#ReNUhope
www.thetimes.com/article/sund...
#ReNUsyndrome
#ReNUhope
January 5, 2026 at 8:19 PM
CONGRATULATIONS @nickywhiffin.bsky.social from @ox.ac.uk for being named in @thetimes.com for the momentous ReNU syndrome discovery and also to Yuyang Chen and all other incredible researchers involved!! 🎉👏🏻🧬
www.thetimes.com/article/sund...
#ReNUsyndrome
#ReNUhope
www.thetimes.com/article/sund...
#ReNUsyndrome
#ReNUhope
🧬New article: Monoallelic & biallelic RNU4-2 variants in neurodevelopmental disorders🧬
“RNU4-2 variants act in both dominant and recessive manners, and that non-critical regions may also harbor disease-causing variants.”
#ReNUsyndrome
#ReNUhope
www.nature.com/articles/s10...
“RNU4-2 variants act in both dominant and recessive manners, and that non-critical regions may also harbor disease-causing variants.”
#ReNUsyndrome
#ReNUhope
www.nature.com/articles/s10...
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders - Journal of Human Genetics
Journal of Human Genetics - Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
www.nature.com
December 19, 2025 at 12:10 AM
🧬New article: Monoallelic & biallelic RNU4-2 variants in neurodevelopmental disorders🧬
“RNU4-2 variants act in both dominant and recessive manners, and that non-critical regions may also harbor disease-causing variants.”
#ReNUsyndrome
#ReNUhope
www.nature.com/articles/s10...
“RNU4-2 variants act in both dominant and recessive manners, and that non-critical regions may also harbor disease-causing variants.”
#ReNUsyndrome
#ReNUhope
www.nature.com/articles/s10...
Thank you @citizen-health.bsky.social for your partnership! 🎉🧬💕
We are excited to accelerate research and ReNU Hope for the future together.
#ReNUsyndrome
#ReNUhope
We are excited to accelerate research and ReNU Hope for the future together.
#ReNUsyndrome
#ReNUhope
@renusyndrome.bsky.social is joining Citizen Health to help advance research for families affected by #ReNUsyndrome —making it easier to contribute data and move discovery forward from home: www.citizen.health/ai-advocate/...
#RareDisease #PatientAdvocacy #CitizenHealth #AccelerateCures #ReNUhope
#RareDisease #PatientAdvocacy #CitizenHealth #AccelerateCures #ReNUhope
December 15, 2025 at 7:56 PM
Thank you @citizen-health.bsky.social for your partnership! 🎉🧬💕
We are excited to accelerate research and ReNU Hope for the future together.
#ReNUsyndrome
#ReNUhope
We are excited to accelerate research and ReNU Hope for the future together.
#ReNUsyndrome
#ReNUhope
CRISPR editing outcomes differ dramatically in non-dividing neurons. @bruceconklin.bsky.social and team characterized prolonged indel accumulation and upregulated DNA repair genes in iPSC-derived neurons. Using a lipid nanoparticle vehicle, the team successfully bundled siRNAs alongside Cas9.
New from IGI's @bruceconklin.bsky.social!
🚨 NEW PUBLICATION 🚨 "Characterizing and controlling #CRISPR repair outcomes in nondividing human cells"
@natcomms.nature.com
@ucberkeleyofficial.bsky.social
@ucsanfrancisco.bsky.social
@innovativegenomics.bsky.social
https://go.nature.com/4plheqJ
@natcomms.nature.com
@ucberkeleyofficial.bsky.social
@ucsanfrancisco.bsky.social
@innovativegenomics.bsky.social
https://go.nature.com/4plheqJ
December 12, 2025 at 5:56 PM
CRISPR editing outcomes differ dramatically in non-dividing neurons. @bruceconklin.bsky.social and team characterized prolonged indel accumulation and upregulated DNA repair genes in iPSC-derived neurons. Using a lipid nanoparticle vehicle, the team successfully bundled siRNAs alongside Cas9.
📣 First post alert! 🎉
We just released a CLINICAL COMPANION to provide a clear overview based on the literature to date, bring to doctor appointments, and to share out as needed. Check it out! buff.ly/t3eFTeQ
#ReNUsyndrome #ReNUsyndromeunited #ReNUawareness #ReNUhope
We just released a CLINICAL COMPANION to provide a clear overview based on the literature to date, bring to doctor appointments, and to share out as needed. Check it out! buff.ly/t3eFTeQ
#ReNUsyndrome #ReNUsyndromeunited #ReNUawareness #ReNUhope
www.renusyndrome.org
December 12, 2025 at 3:14 AM
📣 First post alert! 🎉
We just released a CLINICAL COMPANION to provide a clear overview based on the literature to date, bring to doctor appointments, and to share out as needed. Check it out! buff.ly/t3eFTeQ
#ReNUsyndrome #ReNUsyndromeunited #ReNUawareness #ReNUhope
We just released a CLINICAL COMPANION to provide a clear overview based on the literature to date, bring to doctor appointments, and to share out as needed. Check it out! buff.ly/t3eFTeQ
#ReNUsyndrome #ReNUsyndromeunited #ReNUawareness #ReNUhope